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α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
J Neuropathol Exp Neurol
January 2025
Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.
View Article and Find Full Text PDFExploring brain health awareness and dementia risk in young adults: A focus group study.
Public Health
January 2025
Global Brain Health Institute, Trinity College, Dublin, Ireland and University of California, San Francisco, CA, 94158, USA; University of Chicago, Pritzker School of Medicine, Chicago, IL, 60637, USA.
Objective: The topic of brain health across the life-course is currently receiving exponential attention. Alongside this, exposure to lifestyle-related risk factors for Alzheimer's disease and related dementias accumulates across the life-course. This study aimed to explore young adults' (18-39 years) perceptions and understanding of brain health and dementia risk.
View Article and Find Full Text PDFA novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
View Article and Find Full Text PDFThe Line of Emotion Dysregulation and Need Frustration from Parents to Adolescents: The Role of Parental Psychological Control.
J Genet Psychol
January 2025
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Accumulating evidence, as outlined by Self-Determination Theory (SDT), highlights the crucial role of emotion dysregulation and basic psychological needs in shaping various psychological outcomes. Parental psychological control may play a key role in understanding how these processes develop within the family context. This study aims to examine the intergenerational transmission of basic psychological needs and emotion dysregulation from parents to adolescents, focusing on the indirect association of parental psychological control within this relationship.
View Article and Find Full Text PDFTwo pathogen-inducible UDP-glycosyltransferases, UGT73C3 and UGT73C4, catalyze the glycosylation of pinoresinol to promote plant immunity in Arabidopsis.
Plant Commun
January 2025
The Key Laboratory of Plant Development and Environmental Adaptation Biology, Ministry of Education; Shandong Key Laboratory of Precision Molecular Crop Design and Breeding; School of Life Sciences, Shandong University, Qingdao 266237, China. Electronic address:
UDP-glycosyltransferases (UGTs) constitute the largest glycosyltransferase family in the plant kingdom. They are responsible for transferring sugar moieties onto various small molecules to control many metabolic processes. However, their physiological significance in plants is largely unknown.
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